Towards a better understanding of the low recall of insertion variants with short-read based variant callers

BACKGROUND: Since 2009, numerous tools have been developed to detect structural variants using short read technologies. Insertions >50 bp are one of the hardest type to discover and are drastically underrepresented in gold standard variant callsets. The advent of long read technologies has comple...

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Detalles Bibliográficos
Autores principales: Delage, Wesley J., Thevenon, Julien, Lemaitre, Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7640490/
https://www.ncbi.nlm.nih.gov/pubmed/33148192
http://dx.doi.org/10.1186/s12864-020-07125-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7640490/
https://www.ncbi.nlm.nih.gov/pubmed/33148192
http://dx.doi.org/10.1186/s12864-020-07125-5

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